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  3. GNA11
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Hypocalciuric hypercalcaemia

Gene: GNA11

Green List (high evidence)
GNA11 (G protein subunit alpha 11)
EnsemblGeneIds (GRCh38): ENSG00000088256
EnsemblGeneIds (GRCh37): ENSG00000088256
OMIM: 139313, Gene2Phenotype
GNA11 is in 9 panels

2 reviews

Treena Cranston (Oxford)

Green List (high evidence)

GNA11 pathogenic variants are causative of FHH type 2 (much rarer than FHH1 and FHH3)
Created: 31 Dec 2018, 3:40 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 31 Dec 2018, 3:40 p.m.

Panel version: 0.7

Ivone Leong (Genomics England Curator)

As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 5 Feb 2019, 2:29 p.m.
Comment on list classification: Promoted from red to green. GNA11 is confirmed to be associated with type II hypocalciuric hypercalcemia on OMIM, but not on Gene2Phenotype. There are only 3 reported AP2S1 missense variants in unrelated patients with type II hypocalciuric hypercalcemia.
Created: 5 Dec 2018, 5:16 p.m.
Created: 5 Dec 2018, 5:16 p.m.

Panel version: 1.0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypocalcemia, autosomal dominant 2, OMIM:615361
  • Hypocalciuric hypercalcemia, type II, OMIM:145981
OMIM
139313
Clinvar variants
Variants in GNA11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: GNA11 were changed from Hypocalcemia, autosomal dominant 2 (615361); Hypocalciuric hypercalcemia, type II (145981) to Hypocalcemia, autosomal dominant 2, OMIM:615361; Hypocalciuric hypercalcemia, type II, OMIM:145981

8 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ivone Leong: Comment on list classification

4 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: gna11 has been classified as Green List (High Evidence).

5 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: gna11 has been classified as Green List (High Evidence).

5 Dec 2018, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: GNA11 were set to

5 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: GNA11 was added gene: GNA11 was added to Hypocalciuric hypercalcaemia. Sources: Radboud University Medical Center, Nijmegen Mode of inheritance for gene: GNA11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GNA11 were set to Hypocalcemia, autosomal dominant 2 (615361); Hypocalciuric hypercalcemia, type II (145981)